ArticleGenes and immunity2012
CIITA gene variants are associated with rheumatoid arthritis in Scandinavian populations.
Article in Genes and immunity, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers, 1 of them a synthesis that pooled it.
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Who cites it
13 citing papers in PubMed, 1 synthesis or guideline pooled it, 24 citations in OpenAlex.
- Association between the functional MHC2TA -168 A/G polymorphism and susceptibility to rheumatoid arthritis: a meta-analysis.Clinical rheumatology · 2016Pooled it
- Investigating the Genetic Association of Selected Candidate Loci with Alopecia Areata Susceptibility in Jordanian Patients.Medicina (Kaunas, Lithuania) · 2025Article
- Association of CIITA (rs8048002) and CLEC2D (rs2114870) gene variants and type 1 diabetes mellitus.Journal of diabetes and metabolic disorders · 2024Article
- CIITA promoter polymorphism impairs monocytes HLA-DR expression in patients with septic shock.iScience · 2022Article
- The Immunogenetics of Lichen Planus.Advances in experimental medicine and biology · 2022Article
- NOD-like receptors in autoimmune diseases.Acta pharmacologica Sinica · 2021Review
- Nod-like Receptors: Critical Intracellular Sensors for Host Protection and Cell Death in Microbial and Parasitic Infections.International journal of molecular sciences · 2021Review
- HLA-DRB1 genes and the expression dynamics of HLA CIITA determine the susceptibility to T2DM.Immunogenetics · 2021Article
- Effects of C2ta genetic polymorphisms on MHC class II expression and autoimmune diseases.Immunology · 2017Article
- Multiple Sclerosis Risk Allele in CLEC16A Acts as an Expression Quantitative Trait Locus for CLEC16A and SOCS1 in CD4+ T Cells.PloS one · 2015Article
- From Identification to Characterization of the Multiple Sclerosis Susceptibility Gene CLEC16A.International journal of molecular sciences · 2013Article
- Article
- Variability in the CIITA gene interacts with HLA in multiple sclerosis.Genes and immunityArticle
Corrections and comments
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Authors and funding
13 authors at 5 institutions in 2 countries.
Funding
Abstract
Expression of the major autoimmune risk loci DRB1 and DQB1 is regulated by the class II MHC (major histocompatibility complex) transactivator (CIITA), making the CIITA gene a strong autoimmune risk locus candidate. A CIITA promoter single-nucleotide polymorphism (SNP), rs3087456 (-168 A/G), has indeed been associated with several autoimmune diseases, including rheumatoid arthritis (RA). Recently, an intronic SNP rs8048002 has been suggested as a better susceptibility marker in Addison's disease. Therefore, we tested both SNPs in a panel of autoimmune diseases, consisting of Norwegian patients with RA (n=819), juvenile idiopathic arthritis (JIA; n=524), or type 1 diabetes (T1D; n=1211), and 2149 controls. We also included an independent Swedish RA cohort (n=2503) and controls (n=1416). Both rs3087456 and rs8048002 were significantly associated with RA (combined Norwegian and Swedish patients P(corrected)=0.012 and P(corrected)=0.0016, respectively), but not with JIA or T1D. Meta-analysis of 16 RA cohorts confirmed rs3087456 with only marginal significance (P=0.016). However, results were stronger in the Scandinavian subgroup (4 cohorts, P=3.8 × 10(-4)), indicating a population-dependent effect. A similar pattern was observed in a meta-analysis of rs8048002. Our results support involvement of CIITA in RA, but imply that this is population dependent and that the aetiological variant is yet to be discovered.
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